Research conducted and funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has helped save lives, improve wellbeing, and reduce societal costs associated with illness and disability. The following sections provide examples of groundbreaking scientific findings made possible by NICHD.
A breakthrough by NICHD researchers led to the first vaccine against Haemophilus influenzae type b (Hib), a bacterium that was once the leading cause of meningitis (infection of the covering of the brain and spinal cord) and acquired intellectual disability in young children. Since Food and Drug Administration (FDA) approval during the 1980s, the vaccine has saved thousands of lives, spared many more children lifelong disability, and helped to avert billions in medical costs.1
The NICHD-developed technology that made the Hib vaccine possible was also used to create FDA-approved vaccines against Streptococcus pneumoniae, which causes invasive pneumococcal disease (pneumonia, bacteremia [blood infection], or meningitis) in young children and the elderly. According to the Centers for Disease Control and Prevention, rates of invasive pneumococcal disease among children younger than 5 years old have dropped by more than 90 percent since 2000, the year when the first conjugate pneumococcal vaccine was introduced.
NICHD research confirmed the safety and effectiveness of a simple blood-spot test to screen for phenylketonuria (PKU), an inherited metabolic disorder that, when untreated, can damage the brain and cause severe intellectual disability. These findings led to New York in 1965 becoming the first state to mandate screening of all newborns for PKU. Other states soon followed, allowing for early detection and immediate initiation of dietary therapy, which dramatically reduces the effects of the disorder.
Other efforts by NICHD-supported researchers produced the first blood-spot test to screen for congenital hypothyroidism, another treatable cause of intellectual disability. By 1983, most of the United States mandated screening all newborns for this disorder. Today, by using only a few drops of blood, newborn screening detects a treatable condition in about 13,000 babies each year.2
NICHD-funded scientists were the first to document common abnormalities in children exposed to alcohol in the womb. Research in ensuing decades established the degree of risk posed by drinking alcohol during pregnancy and led to the Surgeon General's warnings now seen on all alcoholic beverage containers.
NICHD investigators identified the beta subunit of human chorionic gonadotropin (hCG) as the earliest marker of pregnancy, leading to the development and subsequent commercialization of the first home pregnancy test. The test detected the presence of hCG in urine even before the first missed period, enabling women to determine their pregnancy status in the privacy of their own homes. The $10 test hit the market in 1978 and quickly became one of most ubiquitous healthcare products in the world.
NICHD-funded research on the care of preterm infants (those born before 37 weeks) has helped improve the standard of care for these tiny patients. In 1960, 26 of every 1,000 babies born in the United States died before their first birthday. By 2019, that rate had fallen to less than 5 per 1,000 babies.2 Some of the more significant findings include:
- Replacement lung surfactant, tested by NICHD, helped increase survival rates for respiratory distress syndrome in premature infants from about 5 percent in the 1960s to around 90 percent today.3
- Prenatal steroids—given to pregnant women at risk for preterm labor—improved survival and limited brain injury among infants born as early as the 23rd week of pregnancy.4
- Early treatment to prevent severe jaundice in extremely preterm infants reduced the infants' rate of brain injury.5
- Giving magnesium sulfate to women at high-risk for preterm birth prevented cerebral palsy and other neural injury in infants.6
In 1994, NICHD and its collaborators launched the Back to Sleep campaign to educate parents and caregivers about reducing the risk of Sudden Infant Death Syndrome (SIDS) by placing infants on their backs to sleep during naptimes and at night. Since the start of the campaign, the SIDS rate in the United States has dropped by more than 50 percent. In 2012, NICHD and its collaborators expanded the campaign, now called Safe to Sleep, to disseminate research-based recommendations aimed at lowering the risk of SIDS and other sleep-related causes of infant death, such as accidental suffocation.7
By identifying luteinizing hormone releasing factor (LHRF, now called gonadotropin-releasing hormone) and other releasing hormones produced by the hypothalamus, NICHD-funded scientists laid the foundation for groundbreaking studies of fertility, contraception, and assistive reproductive technologies, such as in vitro fertilization. In 1977, Roger Guillemin and Andrew Schally—leaders of two independent teams of researchers—won the Nobel Prize in Physiology or Medicine for their discoveries.8
NICHD research found that high numbers of women were genetically at risk for folate deficiency, predisposing them to have babies with NTDs, such as spina bifida. Additional NICHD-funded research showed that the right amount of folic acid, starting before conception and continuing throughout pregnancy, prevented most NTDs. These findings led to changes in recommended amounts and timing of folate intake for women.
In 2011, results from an NICHD-funded study showed the benefits and risks of prenatal surgery to repair myelomeningocele, the primary defect in the most severe form of spina bifida. The study showed that, despite a slight increase in risk for preterm delivery, women and their babies had better overall outcomes—including a greater likelihood of being able to walk independently—if the surgery was done before birth.9 Additional research showed that the benefits of prenatal surgery persisted though school age.10
NICHD-supported researchers have discovered the causes of several genetic disorders, helping to expand treatment options for those affected. Examples of these discoveries include:
- Making critical contributions to identification of the genetic cause and mechanism of Fragile X syndrome, the leading cause of inherited intellectual disability
- Isolating the gene for Rett syndrome, a disorder in which seemingly healthy infant girls gradually lose their language capabilities, mental functioning, and ability to interact with others
- Discovering that non-classical congenital adrenal hyperplasia (CAH) is the most prevalent single-gene disorder in the general population; later findings identified the broad spectrum of disorders caused by CAH and led to treatments for its variant forms, including the first prenatal treatment that prevents characteristic features of CAH, such as genital abnormalities
- Recognizing genes involved in melorheostosis, a rare group of conditions involving an often painful and disfiguring overgrowth of bone tissue11,12
- Discovering genetic causes for multiple forms of osteogenesis imperfecta, sometimes called brittle bone disease13
- Identifying the gene responsible for Cornelia de Lange syndrome, a rare disorder with symptoms including IDD, heart defects and multiple physical abnormalities14
Since the mid-1990s, NIH research has informed the implementation of HIV testing and preventive measures that have led to a more than 90 percent decrease in the number of children with perinatally acquired HIV in the United States. For example, research from NICHD and others showed that a three-drug regimen—called HAART, or highly active antiretroviral therapy—was better than the drug azidothymidine (AZT) at preventing perinatal transmission of HIV. A 2002 study funded by NICHD and others showed that HAART reduced the risk of perinatal HIV transmission to 1.2 percent.15,16 Current17 statistics indicate perinatal HIV transmission is less than 1 percent in the United States.
- U.S. Department of Health and Human Services, National Institutes of Health, Office of Science Policy (n/d). Childhood Hib vaccines: Nearly eliminating the threat of bacterial meningitis. Retrieved January 26, 2022, from https://www.nih.gov/sites/default/files/about-nih/impact/childhood-hib-vaccines-case-study.pdf (PDF 462 KB)
- Sontag, M. K., Yusuf, C., Grosse, S. D., Edelman, S., Miller, J. I., McKasson, S., Kellar-Guenther, Y., Gaffney, M., Hinton, C. F., Cuthbert, C., Singh, S., Ojodu, J., & Shapira, S. K. (2020). Infants with congenital disorders identified through newborn screening - United States, 2015-2017. Morbidity and Mortality Weekly Report, 69(36), 1265–1268. PMID: 32915168
- Murphy, S. L., Kochanek, K. D., Xu, J. Q., & Arias, E. (2021). Mortality in the United States, 2020 (NCHS Data Brief, no 427). Hyattsville, MD: National Center for Health Statistics. Retrieved January 26, 2022, from https://www.cdc.gov/nchs/products/databriefs/db427.htm
- Cochrane Library (2022). Cochrane Database of Systemic Reviews, https://www.cochranelibrary.com/cdsr/about-cdsr
- Morris, B. H., Oh, W., Tyson, J. E., Stevenson, D. K., Phelps, D. L., O'Shea, T. M., McDavid, G. E., Perritt, R. L., Van Meurs, K. P., Vohr, B. R., Grisby, C., Yao, Q., Pedroza, C., Das, A., Poole, W. K., Carlo, W. A., Duara, S., Laptook, A. R., Salhab, W. A., Shankaran, S., … NICHD Neonatal Research Network (2008). Aggressive vs. conservative phototherapy for infants with extremely low birth weight. The New England Journal of Medicine, 359(18), 1885–1896. PMID: 18971491
- Rouse, D. J., Hirtz, D. G., Thom, E., Varner, M. W., Spong, C. Y., Mercer, B. M., Iams, J. D., Wapner, R. J., Sorokin, Y., Alexander, J. M., Harper, M., Thorp, J. M., Jr, Ramin, S. M., Malone, F. D., Carpenter, M., Miodovnik, M., Moawad, A., O'Sullivan, M. J., Peaceman, A. M., Hankins, G. D., … Eunice Kennedy Shriver NICHD Maternal-Fetal Medicine Units Network (2008). A randomized, controlled trial of magnesium sulfate for the prevention of cerebral palsy. The New England Journal of Medicine, 359(9), 895–905. PMID: 18753646
- Trachtenberg, F. L., Haas, E. A., Kinney, H. C., Stanley, C., & Krous, H. F. (2012). Risk factor changes for sudden infant death syndrome after initiation of Back-to-Sleep campaign. Pediatrics, 129(4), 630–638. PMID: 22451703
- NIH. (2021). Nobel laureates. The NIH Almanac. Retrieved January 26, 2022, from https://www.nih.gov/about-nih/what-we-do/nih-almanac/nobel-laureates
- Adzick, N. S., Thom, E. A., Spong, C. Y., Brock, J. W., 3rd, Burrows, P. K., Johnson, M. P., Howell, L. J., Farrell, J. A., Dabrowiak, M. E., Sutton, L. N., Gupta, N., Tulipan, N. B., D'Alton, M. E., Farmer, D. L., & MOMS Investigators (2011). A randomized trial of prenatal versus postnatal repair of myelomeningocele. The New England Journal of Medicine, 364(11), 993–1004. PMID: 21306277
- NICHD. (2020). Release: Benefits of fetal surgery to repair spina bifida persist through school age, NIH study finds. Retrieved January 26, 2022, from https://www.nichd.nih.gov/newsroom/news/012420-myelomeningocele
- NICHD. (2020). Media advisory: NIH researchers discover gene for rare disease of excess bone tissue growth. Retrieved January 26, 2022, from https://www.nichd.nih.gov/newsroom/news/033120-melorheostosis
- NIH. (2018). Press release: NIH researchers crack mystery behind rare bone disorder. Retrieved January 26, 2022, from https://www.nih.gov/news-events/news-releases/nih-researchers-crack-mystery-behind-rare-bone-disorder
- NICHD. Marini Lab: Genetic Disorders of Bone and Extracellular Matrix. 2020 Annual Report of the Division of Intramural Research. Retrieved January 26, 2022, from https://annualreport.nichd.nih.gov/marini.html
- NICHD. (2004). NICHD funded researchers discover gene for Cornelia De Lange syndrome. Retrieved January 26, 2022, from https://www.nichd.nih.gov/newsroom/releases/cornelia
- Tuomala, R. E., Shapiro, D. E., Mofenson, L. M., Bryson, Y., Culnane, M., Hughes, M. D., O'Sullivan, M. J., Scott, G., Stek, A. M., Wara, D., & Bulterys, M. (2002). Antiretroviral therapy during pregnancy and the risk of an adverse outcome. The New England Journal of Medicine, 346(24), 1863–1870. PMID: 12063370
- Cooper, E. R., Charurat, M., Mofenson, L., Hanson, I. C., Pitt, J., Diaz, C., Hayani, K., Handelsman, E., Smeriglio, V., Hoff, R., Blattner, W., & Women and Infants' Transmission Study Group (2002). Combination antiretroviral strategies for the treatment of pregnant HIV-1-infected women and prevention of perinatal HIV-1 transmission. Journal of Acquired Immune Deficiency Syndromes (1999), 29(5), 484–494. PMID: 11981365
- Centers for Disease Control and Prevention. (2022). HIV: Pregnant women, infants, and children. Retrieved January 26, 2022, from https://www.cdc.gov/hiv/group/gender/pregnantwomen/index.html